MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000224949
Querying Taster for transcript #2: ENST00000451104
Querying Taster for transcript #3: ENST00000380989
MT speed 2.15 s - this script 3.779627 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PITRM1	polymorphism_automatic	4.80108697242798e-09	simple_aae				I328V	single base exchange	rs4242746		show file
PITRM1	polymorphism_automatic	4.80108697242798e-09	simple_aae				I296V	single base exchange	rs4242746		show file
PITRM1	polymorphism_automatic	4.80108697242798e-09	simple_aae				I328V	single base exchange	rs4242746		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999995198913 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:3202065T>CN/A show variant in all transcripts IGV

HGNC symbol

PITRM1

Ensembl transcript ID

ENST00000224949

Genbank transcript ID

N/A

UniProt peptide

Q5JRX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.982A>G
cDNA.1017A>G
g.12939A>G

AA changes

I328V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

328

frameshift

known variant

Reference ID: rs4242746

database	homozygous (C/C)	heterozygous	allele carriers
1000G	972	1165	2137
ExAC	21722	-10677	11045

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.428	0.996
	0.256	0.081
(flanking)	-4.645	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

328

mutated

all conserved

328

Ptroglodytes

all conserved

ENSPTRG00000002244

328

Mmulatta

not conserved

ENSMMUG00000004938

328

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000021193

328

Ggallus

all conserved

ENSGALG00000007036

330

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000038563

323

Dmelanogaster

all identical

FBgn0033005

352

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3114 / 3114

position (AA) of stopcodon in wt / mu AA sequence

1038 / 1038

position of stopcodon in wt / mu cDNA

3149 / 3149

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

36 / 36

chromosome

strand

-1

last intron/exon boundary

3056

theoretical NMD boundary in CDS

2970

length of CDS

3114

coding sequence (CDS) position

982

cDNA position
(for ins/del: last normal base / first normal base)

1017

gDNA position
(for ins/del: last normal base / first normal base)

12939

chromosomal position
(for ins/del: last normal base / first normal base)

3202065

original gDNA sequence snippet

ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA

altered gDNA sequence snippet

ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA

original cDNA sequence snippet

ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA

altered cDNA sequence snippet

ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA

wildtype AA sequence

MWRCGGRQGL CVLRRLSGGH AHHRAWRWNS NRACERALQY KLGDKIHGFT VNQVTSVPEL
FLTAVKLTHD DTGARYLHLA REDTNNLFSV QFRTTPMDST GVPHILEHTV LCGSQKYPCR
DPFFKMLNRS LSTFMNAFTA SDYTLYPFST QNPKDFQNLL SVYLDATFFP CLRELDFWQE
GWRLEHENPS DPQTPLVFKG VVFNEMKGAF VNNERIFSQH LQNRLLPDHT YSVVSGGDPL
CIPELTWEQL KQFHATHYHP SNARFFTYGN FPLEQHLKQI HEEALSKFQK IEPSTVVPAQ
TPWDKPREFQ ITCGPDSFAT DPSKQTTISV SFLLPDITDT FEAFTLSLLS SLLTSGPNSP
FYKALIESGL GTDFSPDVGY NGYTREAYFS VGLQGIAEKD IETVRSLIDR TIDEVVEKGF
EDDRIEALLH KIEIQMKHQS TSFGLMLTSY IASCWNHDGD PVELLKLGNQ LAKFRQCLQE
NPKFLQEKVK QYFKNNQHKL TLSMRPDDKY HEKQAQVEAT KLKQKVEALS PGDRQQIYEK
GLELRSQQSK PQDASCLPAL KVSDIEPTIP VTELDVVLTA GDIPVQYCAQ PTNGMVYFRA
FSSLNTLPEE LRPYVPLFCS VLTKLGCGLL DYREQAQQIE LKTGGMSASP HVLPDDSHMD
TYEQGVLFSS LCLDRNLPDM MQLWSEIFNN PCFEEEEHFK VLVKMTAQEL ANGIPDSGHL
YASIRAGRTL TPAGDLQETF SGMDQVRLMK RIAEMTDIKP ILRKLPRIKK HLLNGDNMRC
SVNATPQQMP QTEKAVEDFL RSIGRSKKER RPVRPHTVEK PVPSSSGGDA HVPHGSQVIR
KLVMEPTFKP WQMKTHFLMP FPVNYVGECI RTVPYTDPDH ASLKILARLM TAKFLHTEIR
EKGGAYGGGA KLSHNGIFTL YSYRDPNTIE TLQSFGKAVD WAKSGKFTQQ DIDEAKLSVF
STVDAPVAPS DKGMDHFLYG LSDEMKQAHR EQLFAVSHDK LLAVSDRYLG TGKSTHGLAI
LGPENPKIAK DPSWIIQ*

mutated AA sequence

MWRCGGRQGL CVLRRLSGGH AHHRAWRWNS NRACERALQY KLGDKIHGFT VNQVTSVPEL
FLTAVKLTHD DTGARYLHLA REDTNNLFSV QFRTTPMDST GVPHILEHTV LCGSQKYPCR
DPFFKMLNRS LSTFMNAFTA SDYTLYPFST QNPKDFQNLL SVYLDATFFP CLRELDFWQE
GWRLEHENPS DPQTPLVFKG VVFNEMKGAF VNNERIFSQH LQNRLLPDHT YSVVSGGDPL
CIPELTWEQL KQFHATHYHP SNARFFTYGN FPLEQHLKQI HEEALSKFQK IEPSTVVPAQ
TPWDKPREFQ ITCGPDSFAT DPSKQTTVSV SFLLPDITDT FEAFTLSLLS SLLTSGPNSP
FYKALIESGL GTDFSPDVGY NGYTREAYFS VGLQGIAEKD IETVRSLIDR TIDEVVEKGF
EDDRIEALLH KIEIQMKHQS TSFGLMLTSY IASCWNHDGD PVELLKLGNQ LAKFRQCLQE
NPKFLQEKVK QYFKNNQHKL TLSMRPDDKY HEKQAQVEAT KLKQKVEALS PGDRQQIYEK
GLELRSQQSK PQDASCLPAL KVSDIEPTIP VTELDVVLTA GDIPVQYCAQ PTNGMVYFRA
FSSLNTLPEE LRPYVPLFCS VLTKLGCGLL DYREQAQQIE LKTGGMSASP HVLPDDSHMD
TYEQGVLFSS LCLDRNLPDM MQLWSEIFNN PCFEEEEHFK VLVKMTAQEL ANGIPDSGHL
YASIRAGRTL TPAGDLQETF SGMDQVRLMK RIAEMTDIKP ILRKLPRIKK HLLNGDNMRC
SVNATPQQMP QTEKAVEDFL RSIGRSKKER RPVRPHTVEK PVPSSSGGDA HVPHGSQVIR
KLVMEPTFKP WQMKTHFLMP FPVNYVGECI RTVPYTDPDH ASLKILARLM TAKFLHTEIR
EKGGAYGGGA KLSHNGIFTL YSYRDPNTIE TLQSFGKAVD WAKSGKFTQQ DIDEAKLSVF
STVDAPVAPS DKGMDHFLYG LSDEMKQAHR EQLFAVSHDK LLAVSDRYLG TGKSTHGLAI
LGPENPKIAK DPSWIIQ*

speed

0.37 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999995198913 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:3202065T>CN/A show variant in all transcripts IGV

HGNC symbol

PITRM1

Ensembl transcript ID

ENST00000451104

Genbank transcript ID

NM_001242309

UniProt peptide

Q5JRX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.886A>G
cDNA.889A>G
g.12939A>G

AA changes

I296V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

296

frameshift

known variant

Reference ID: rs4242746

database	homozygous (C/C)	heterozygous	allele carriers
1000G	972	1165	2137
ExAC	21722	-10677	11045

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.428	0.996
	0.256	0.081
(flanking)	-4.645	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

296

mutated

all conserved

296

Ptroglodytes

all conserved

ENSPTRG00000002244

328

Mmulatta

not conserved

ENSMMUG00000004938

328

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000021193

328

Ggallus

all conserved

ENSGALG00000007036

330

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000038563

323

Dmelanogaster

all identical

FBgn0033005

352

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2820 / 2820

position (AA) of stopcodon in wt / mu AA sequence

940 / 940

position of stopcodon in wt / mu cDNA

2823 / 2823

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

4 / 4

chromosome

strand

-1

last intron/exon boundary

2730

theoretical NMD boundary in CDS

2676

length of CDS

2820

coding sequence (CDS) position

886

cDNA position
(for ins/del: last normal base / first normal base)

889

gDNA position
(for ins/del: last normal base / first normal base)

12939

chromosomal position
(for ins/del: last normal base / first normal base)

3202065

original gDNA sequence snippet

ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA

altered gDNA sequence snippet

ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA

original cDNA sequence snippet

ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA

altered cDNA sequence snippet

ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA

wildtype AA sequence

MRNVALRRAA GPVCAEAAER RVTSVPELFL TAVKLTHDDT GARYLHLARE DTNNLFSVQF
RTTPMDSTGV PHILEHTVLC GSQKYPCRDP FFKMLNRSLS TFMNAFTASD YTLYPFSTQN
PKDFQNLLSV YLDATFFPCL RELDFWQEGW RLEHENPSDP QTPLVFKGVV FNEMKGAFTD
NERIFSQHLQ NRLLPDHTYS VVSGGDPLCI PELTWEQLKQ FHATHYHPSN ARFFTYGNFP
LEQHLKQIHE EALSKFQKIE PSTVVPAQTP WDKPREFQIT CGPDSFATDP SKQTTISVSF
LLPDITDTFE AFTLSLLSSL LTSGPNSPFY KALIESGLGT DFSPDVGYNG YTREAYFSVG
LQGIAEKDIE TVRSLIDRTI DEVVEKGFED DRIEALLHKI EIQMKHQSTS FGLMLTSYIA
SCWNHDGDPV ELLKLGNQLA KFRQCLQENP KFLQEKVKQY FKNNQHKLTL SMRPDDKYHE
KQAQVEATKL KQKVEALSPG DRQQIYEKGL ELRSQQSKPQ DASCLPALKV SDIEPTIPVT
ELDVVLTAGD IPVQYCAQPT NGMVYFRAFS SLNTLPEELR PYVPLFCSVL TNPCFEEEEH
FKVLVKMTAQ ELANGIPDSG HLYASIRAGR TLTPAGDLQE TFSGMDQVRL MKRIAEMTDI
KPILRKLPRI KKHLLNGDNM RCSVNATPQQ MPQTEKAVED FLRSIGRSKK ERRPVRPHTV
EKPVPSSSGG DAHVPHGSQV IRKLVMEPTF KPWQMKTHFL MPFPVNYVGE CIRTVPYTDP
DHASLKILAR LMTAKFLHTE IREKGGAYGG GAKLSHNGIF TLYSYRDPNT IETLQSFGKA
VDWAKSGKFT QQDIDEAKLS VFSTVDAPVA PSDKGMDHFL YGLSDEMKQA HREQLFAVSH
DKLLAVSDRY LGTGKSTHGL AILGPENPKI AKDPSWIIQ*

mutated AA sequence

MRNVALRRAA GPVCAEAAER RVTSVPELFL TAVKLTHDDT GARYLHLARE DTNNLFSVQF
RTTPMDSTGV PHILEHTVLC GSQKYPCRDP FFKMLNRSLS TFMNAFTASD YTLYPFSTQN
PKDFQNLLSV YLDATFFPCL RELDFWQEGW RLEHENPSDP QTPLVFKGVV FNEMKGAFTD
NERIFSQHLQ NRLLPDHTYS VVSGGDPLCI PELTWEQLKQ FHATHYHPSN ARFFTYGNFP
LEQHLKQIHE EALSKFQKIE PSTVVPAQTP WDKPREFQIT CGPDSFATDP SKQTTVSVSF
LLPDITDTFE AFTLSLLSSL LTSGPNSPFY KALIESGLGT DFSPDVGYNG YTREAYFSVG
LQGIAEKDIE TVRSLIDRTI DEVVEKGFED DRIEALLHKI EIQMKHQSTS FGLMLTSYIA
SCWNHDGDPV ELLKLGNQLA KFRQCLQENP KFLQEKVKQY FKNNQHKLTL SMRPDDKYHE
KQAQVEATKL KQKVEALSPG DRQQIYEKGL ELRSQQSKPQ DASCLPALKV SDIEPTIPVT
ELDVVLTAGD IPVQYCAQPT NGMVYFRAFS SLNTLPEELR PYVPLFCSVL TNPCFEEEEH
FKVLVKMTAQ ELANGIPDSG HLYASIRAGR TLTPAGDLQE TFSGMDQVRL MKRIAEMTDI
KPILRKLPRI KKHLLNGDNM RCSVNATPQQ MPQTEKAVED FLRSIGRSKK ERRPVRPHTV
EKPVPSSSGG DAHVPHGSQV IRKLVMEPTF KPWQMKTHFL MPFPVNYVGE CIRTVPYTDP
DHASLKILAR LMTAKFLHTE IREKGGAYGG GAKLSHNGIF TLYSYRDPNT IETLQSFGKA
VDWAKSGKFT QQDIDEAKLS VFSTVDAPVA PSDKGMDHFL YGLSDEMKQA HREQLFAVSH
DKLLAVSDRY LGTGKSTHGL AILGPENPKI AKDPSWIIQ*

speed

0.90 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999995198913 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr10:3202065T>CN/A show variant in all transcripts IGV

HGNC symbol

PITRM1

Ensembl transcript ID

ENST00000380989

Genbank transcript ID

NM_001242307

UniProt peptide

Q5JRX3

alteration type

single base exchange

alteration region

CDS

DNA changes

c.982A>G
cDNA.1021A>G
g.12939A>G

AA changes

I328V Score: 29 explain score(s)

position(s) of altered AA
if AA alteration in CDS

328

frameshift

known variant

Reference ID: rs4242746

database	homozygous (C/C)	heterozygous	allele carriers
1000G	972	1165	2137
ExAC	21722	-10677	11045

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	3.428	0.996
	0.256	0.081
(flanking)	-4.645	0

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

328

mutated

all conserved

328

Ptroglodytes

all conserved

ENSPTRG00000002244

328

Mmulatta

not conserved

ENSMMUG00000004938

328

Fcatus

no homologue

Mmusculus

all conserved

ENSMUSG00000021193

328

Ggallus

all conserved

ENSGALG00000007036

330

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000038563

323

Dmelanogaster

all identical

FBgn0033005

352

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3117 / 3117

position (AA) of stopcodon in wt / mu AA sequence

1039 / 1039

position of stopcodon in wt / mu cDNA

3156 / 3156

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

40 / 40

chromosome

strand

-1

last intron/exon boundary

3063

theoretical NMD boundary in CDS

2973

length of CDS

3117

coding sequence (CDS) position

982

cDNA position
(for ins/del: last normal base / first normal base)

1021

gDNA position
(for ins/del: last normal base / first normal base)

12939

chromosomal position
(for ins/del: last normal base / first normal base)

3202065

original gDNA sequence snippet

ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA

altered gDNA sequence snippet

ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA

original cDNA sequence snippet

ATCCCTCTAAACAAACAACCATCAGCGTTAGCTTCCTCTTA

altered cDNA sequence snippet

ATCCCTCTAAACAAACAACCGTCAGCGTTAGCTTCCTCTTA

wildtype AA sequence

MWRCGGRQGL CVLRRLSGGH AHHRAWRWNS NRACERALQY KLGDKIHGFT VNQVTSVPEL
FLTAVKLTHD DTGARYLHLA REDTNNLFSV QFRTTPMDST GVPHILEHTV LCGSQKYPCR
DPFFKMLNRS LSTFMNAFTA SDYTLYPFST QNPKDFQNLL SVYLDATFFP CLRELDFWQE
GWRLEHENPS DPQTPLVFKG VVFNEMKGAF TDNERIFSQH LQNRLLPDHT YSVVSGGDPL
CIPELTWEQL KQFHATHYHP SNARFFTYGN FPLEQHLKQI HEEALSKFQK IEPSTVVPAQ
TPWDKPREFQ ITCGPDSFAT DPSKQTTISV SFLLPDITDT FEAFTLSLLS SLLTSGPNSP
FYKALIESGL GTDFSPDVGY NGYTREAYFS VGLQGIAEKD IETVRSLIDR TIDEVVEKGF
EDDRIEALLH KIEIQMKHQS TSFGLMLTSY IASCWNHDGD PVELLKLGNQ LAKFRQCLQE
NPKFLQEKVK QYFKNNQHKL TLSMRPDDKY HEKQAQVEAT KLKQKVEALS PGDRQQIYEK
GLELRSQQSK PQDASCLPAL KVSDIEPTIP VTELDVVLTA GDIPVQYCAQ PTNGMVYFRA
FSSLNTLPEE LRPYVPLFCS VLTKLGCGLL DYREQAQQIE LKTGGMSASP HVLPDDSHMD
TYEQVGVLFS SLCLDRNLPD MMQLWSEIFN NPCFEEEEHF KVLVKMTAQE LANGIPDSGH
LYASIRAGRT LTPAGDLQET FSGMDQVRLM KRIAEMTDIK PILRKLPRIK KHLLNGDNMR
CSVNATPQQM PQTEKAVEDF LRSIGRSKKE RRPVRPHTVE KPVPSSSGGD AHVPHGSQVI
RKLVMEPTFK PWQMKTHFLM PFPVNYVGEC IRTVPYTDPD HASLKILARL MTAKFLHTEI
REKGGAYGGG AKLSHNGIFT LYSYRDPNTI ETLQSFGKAV DWAKSGKFTQ QDIDEAKLSV
FSTVDAPVAP SDKGMDHFLY GLSDEMKQAH REQLFAVSHD KLLAVSDRYL GTGKSTHGLA
ILGPENPKIA KDPSWIIQ*

mutated AA sequence

MWRCGGRQGL CVLRRLSGGH AHHRAWRWNS NRACERALQY KLGDKIHGFT VNQVTSVPEL
FLTAVKLTHD DTGARYLHLA REDTNNLFSV QFRTTPMDST GVPHILEHTV LCGSQKYPCR
DPFFKMLNRS LSTFMNAFTA SDYTLYPFST QNPKDFQNLL SVYLDATFFP CLRELDFWQE
GWRLEHENPS DPQTPLVFKG VVFNEMKGAF TDNERIFSQH LQNRLLPDHT YSVVSGGDPL
CIPELTWEQL KQFHATHYHP SNARFFTYGN FPLEQHLKQI HEEALSKFQK IEPSTVVPAQ
TPWDKPREFQ ITCGPDSFAT DPSKQTTVSV SFLLPDITDT FEAFTLSLLS SLLTSGPNSP
FYKALIESGL GTDFSPDVGY NGYTREAYFS VGLQGIAEKD IETVRSLIDR TIDEVVEKGF
EDDRIEALLH KIEIQMKHQS TSFGLMLTSY IASCWNHDGD PVELLKLGNQ LAKFRQCLQE
NPKFLQEKVK QYFKNNQHKL TLSMRPDDKY HEKQAQVEAT KLKQKVEALS PGDRQQIYEK
GLELRSQQSK PQDASCLPAL KVSDIEPTIP VTELDVVLTA GDIPVQYCAQ PTNGMVYFRA
FSSLNTLPEE LRPYVPLFCS VLTKLGCGLL DYREQAQQIE LKTGGMSASP HVLPDDSHMD
TYEQVGVLFS SLCLDRNLPD MMQLWSEIFN NPCFEEEEHF KVLVKMTAQE LANGIPDSGH
LYASIRAGRT LTPAGDLQET FSGMDQVRLM KRIAEMTDIK PILRKLPRIK KHLLNGDNMR
CSVNATPQQM PQTEKAVEDF LRSIGRSKKE RRPVRPHTVE KPVPSSSGGD AHVPHGSQVI
RKLVMEPTFK PWQMKTHFLM PFPVNYVGEC IRTVPYTDPD HASLKILARL MTAKFLHTEI
REKGGAYGGG AKLSHNGIFT LYSYRDPNTI ETLQSFGKAV DWAKSGKFTQ QDIDEAKLSV
FSTVDAPVAP SDKGMDHFLY GLSDEMKQAH REQLFAVSHD KLLAVSDRYL GTGKSTHGLA
ILGPENPKIA KDPSWIIQ*

speed

0.88 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems